Which clinical history findings are characteristic of spinal muscular atrophy (SMA)?

Updated: May 29, 2019
  • Author: Jeffrey Rosenfeld, MD, PhD, FAAN; Chief Editor: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP  more...
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The diagnosis of spinal muscular atrophies includes the following a detailed clinical history. Obtaining a complete family history facilitates genetic counseling.

Patients with spinal muscular atrophy present with weakness and muscle wasting in the limbs, respiratory, and bulbar or brainstem muscles. They have no evidence of cerebral or other CNS dysfunction. Patients with spinal muscular atrophy often have above-average intelligence quotients (IQs) and demonstrate high degrees of intelligence.

The clinical manifestations of each particular form of spinal muscular atrophy are discussed: [15, 2, 16, 17, 18]

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